All variants in the DHCR7 gene

Information The variants shown are described using the NM_001360.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 6 c.506C>T r.(?) p.(Ser169Leu) J - pathogenic g.71152393G>A g.71441347G>A - - DHCR7_000071 - PubMed: Witsch-Baumgartner et al. 2000 - rs80338855 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.506C>T r.(?) p.(Ser169Leu) - - pathogenic g.71152393G>A g.71441347G>A - - DHCR7_000071 - PubMed: Witsch-Baumgartner et al. 2000 - rs80338855 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.506C>T r.(?) p.(Ser169Leu) - - pathogenic g.71152393G>A g.71441347G>A - - DHCR7_000071 - PubMed: Witsch-Baumgartner et al. 2000 - rs80338855 Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/. - c.506C>T r.(?) p.(Ser169Leu) - - pathogenic g.71152393G>A g.71441347G>A DHCR7(NM_001360.2):c.506C>T (p.S169L) - DHCR7_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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